Gene Symbol: Atxn10
Description: ataxin 10
Alias: AI325283, C77170, E46, Sca10, TEG-169, Tex169, ataxin-10, brain protein E46, spinocerebellar ataxia 10, spinocerebellar ataxia type 10 protein homolog, testis expressed gene 169
Wakamiya M, Matsuura T, Liu Y, Schuster G, Gao R, Xu W, et al
. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology. 2006;67:607-13 pubmed
..SCA10 is caused by an expansion of an ATTCT pentanucleotide repeat in intron 9 of the ataxin 10 (ATXN10) gene encoding an approximately 55-kd protein of unknown function...
López Fernández L, Parraga M, del Mazo J. Tex261, a novel gene presumably related but distinct from steroidogenic acute regulatory (StAR) gene, is regulated during the development of germ cells. Biochem Biophys Res Commun. 1998;242:565-9 pubmed
Kato K. A Collection of cDNA Clones with Specific Expression Patterns in Mouse Brain. Eur J Neurosci. 1990;2:704-711 pubmed
..Among them seven clones were especially abundant in specific nuclei, and three in specific fibre bundles. These clones will be useful in defining new subpopulations of brain cells characterized by different gene expression. ..
Andrali S, März P, Ozcan S. Ataxin-10 interacts with O-GlcNAc transferase OGT in pancreatic beta cells. Biochem Biophys Res Commun. 2005;337:149-53 pubmed
..We describe here the identification of Ataxin-10, encoded by the SCA10 (spinocerebellar ataxia type 10) gene as an OGT interacting protein...
White M, Gao R, Xu W, Mandal S, Lim J, Hazra T, et al
. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet. 2010;6:e1000984 pubmed publisher
..Our subsequent studies indicated that neither a gain nor a loss of function of ataxin 10 is likely the major pathogenic mechanism of SCA10...
Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al
. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
..Using 38 interactors as candidates, linkage and sequencing analysis of 250 patients identified ATXN10 and TCTN2 as new NPHP-JBTS genes, and our Tctn2 mouse knockout shows neural tube and Hedgehog signaling defects...
Zoppe M, Frattini A, Faranda S, Vezzoni P. The complete sequence of the host cell factor 1 (HCFC1) gene and its promoter: a role for YY1 transcription factor in the regulation of its expression. Genomics. 1996;34:85-91 pubmed
..This suggests that HCFC1 expression might be regulated by the reciprocal interaction of several transcription factors. ..
López Fernández L, del Mazo J. Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library. Mamm Genome. 1996;7:698-700 pubmed